Canonical Allele Identifier: CA254625
Gene: NDUFV2 HGNC NCBI
COSMIC:
COSM3773839 (not active)
MyVariant.info:
GRCh38 chr18:g.9117869T>C
GRCh37 chr18:g.9117867T>C
Revel Score:
ENST00000318388 (MANE Select) 0.112
ENST00000400033 0.112
gnomAD v2:
18:9117867 T / C
gnomAD v3:
18:9117869 T / C
gnomAD v4:
chr18-9117869-T-C
Joint Max Group AF 0.86417163 (MID)
Genomes Max Group AF 0.83651261 (SAS)
Exomes Max Group AF 0.86365352 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.9117869T>C , CM000680.2:g.9117869T>C GRCh38
NC_000018.9:g.9117867T>C , CM000680.1:g.9117867T>C GRCh37
NC_000018.8:g.9107867T>C NCBI36
NG_013355.1:g.20240T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318388.11:c.86T>C MANE Select ENSP00000327268.6:p.Val29Ala
ENST00000318388.10:c.86T>C ENSP00000327268.6:p.Val29Ala
ENST00000400033.1:c.95T>C ENSP00000382908.1:p.Val32Ala
ENST00000474350.5:n.483T>C
ENST00000483511.1:n.145T>C
ENST00000577703.1:c.*602T>C ENSP00000461911.1:n.*602T>C
ENST00000583375.5:n.177T>C
NM_021074.4:c.86T>C NP_066552.2:p.Val29Ala
XR_243808.1:n.188T>C
XM_017025782.1:c.-2T>C XP_016881271.1:n.-2T>C
XR_002958175.1:n.188T>C
XR_243808.3:n.103T>C
NM_021074.5:c.86T>C MANE Select NP_066552.2:p.Val29Ala
Search 100 bp 5'
Search 100 bp 3'